Figure 2

Further characterisation of CTNNA3 deletions in the pedigree 3456. (A) From the left, results of PCR across father's and mother's deletion breakpoints, respectively: only the allele with the deletion can be amplified and visualized as a band of 301 bp in the father, in the proband and the unaffected sister, and as a band of 949 bp in the mother and in the proband. On the right, the amplification with primers mapping in the deleted exon of CTNNA3 indicates the presence of at least one allele without the deletion. At both extremities of the gel, 1-kb Plus and 100-bp DNA ladder were loaded. (B) The segregation pattern for these two deletions involving CTNNA3 in the discovery pedigree. Autism is indicated in black filling. (C) Schematic from the UCSC genome browser. The figure shows the position of the two CTNNA3 deletions in the pedigree 3456. The region shown corresponds to approximately 1.8 Mb on 10q21.3 (NCBI build 37 coordinates).